Incidental Mutation 'R1122:Chtf18'
ID |
95780 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chtf18
|
Ensembl Gene |
ENSMUSG00000019214 |
Gene Name |
CTF18, chromosome transmission fidelity factor 18 |
Synonyms |
CTF18, 6030457M03Rik |
MMRRC Submission |
039195-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.353)
|
Stock # |
R1122 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
25938004-25946409 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25943597 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 333
(E333G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131366
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047273]
[ENSMUST00000048054]
[ENSMUST00000167940]
[ENSMUST00000170070]
[ENSMUST00000170575]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047273
|
SMART Domains |
Protein: ENSMUSP00000043825 Gene: ENSMUSG00000041199
Domain | Start | End | E-Value | Type |
Pfam:PseudoU_synth_2
|
17 |
182 |
4.1e-27 |
PFAM |
low complexity region
|
271 |
287 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000048054
AA Change: E332G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000043896 Gene: ENSMUSG00000019214 AA Change: E332G
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
30 |
N/A |
INTRINSIC |
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
low complexity region
|
117 |
130 |
N/A |
INTRINSIC |
low complexity region
|
154 |
168 |
N/A |
INTRINSIC |
coiled coil region
|
228 |
255 |
N/A |
INTRINSIC |
low complexity region
|
299 |
310 |
N/A |
INTRINSIC |
low complexity region
|
343 |
354 |
N/A |
INTRINSIC |
AAA
|
361 |
518 |
1.99e-11 |
SMART |
low complexity region
|
646 |
661 |
N/A |
INTRINSIC |
Blast:AAA
|
728 |
850 |
7e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167940
|
SMART Domains |
Protein: ENSMUSP00000131349 Gene: ENSMUSG00000019214
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
Blast:AAA
|
21 |
107 |
9e-11 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168060
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168914
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169767
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170070
|
SMART Domains |
Protein: ENSMUSP00000131768 Gene: ENSMUSG00000019214
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
low complexity region
|
155 |
169 |
N/A |
INTRINSIC |
coiled coil region
|
229 |
256 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170575
AA Change: E333G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131366 Gene: ENSMUSG00000019214 AA Change: E333G
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
low complexity region
|
155 |
169 |
N/A |
INTRINSIC |
coiled coil region
|
229 |
256 |
N/A |
INTRINSIC |
low complexity region
|
300 |
311 |
N/A |
INTRINSIC |
low complexity region
|
344 |
355 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016] PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal lethality, reduced body and testis weight, defective male meiosis, impaired spermatogenesis, oligozoospermia, and reduced male fertility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadvl |
G |
A |
11: 69,902,203 (GRCm39) |
L469F |
probably damaging |
Het |
Adgrb1 |
C |
A |
15: 74,419,534 (GRCm39) |
R792S |
probably damaging |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Arhgap15 |
A |
T |
2: 44,032,307 (GRCm39) |
H297L |
probably benign |
Het |
Cyb5a |
A |
G |
18: 84,895,964 (GRCm39) |
T77A |
possibly damaging |
Het |
Entrep1 |
T |
C |
19: 23,952,756 (GRCm39) |
E518G |
probably damaging |
Het |
Exosc10 |
T |
C |
4: 148,650,821 (GRCm39) |
W456R |
possibly damaging |
Het |
Fhip2a |
A |
T |
19: 57,370,733 (GRCm39) |
T551S |
probably benign |
Het |
Gad2 |
A |
T |
2: 22,513,463 (GRCm39) |
Q31L |
possibly damaging |
Het |
Gm9637 |
T |
A |
14: 19,401,879 (GRCm38) |
|
noncoding transcript |
Het |
Itgav |
A |
G |
2: 83,622,283 (GRCm39) |
T622A |
probably benign |
Het |
Kifc5b |
T |
A |
17: 27,143,035 (GRCm39) |
V269E |
probably benign |
Het |
Lrrc15 |
T |
C |
16: 30,092,719 (GRCm39) |
N207D |
probably damaging |
Het |
Map2k5 |
A |
G |
9: 63,170,445 (GRCm39) |
V291A |
probably damaging |
Het |
Mrc1 |
G |
A |
2: 14,266,147 (GRCm39) |
|
probably null |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Or12d12 |
T |
A |
17: 37,611,019 (GRCm39) |
Q98L |
probably damaging |
Het |
Or1o2 |
T |
A |
17: 37,542,934 (GRCm39) |
D109V |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,457,981 (GRCm39) |
V294A |
probably benign |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Rnf220 |
C |
T |
4: 117,135,277 (GRCm39) |
G171S |
probably benign |
Het |
Slc6a4 |
T |
C |
11: 76,918,012 (GRCm39) |
S585P |
possibly damaging |
Het |
Slc7a8 |
T |
C |
14: 54,961,564 (GRCm39) |
E528G |
probably benign |
Het |
Slco4c1 |
A |
G |
1: 96,756,561 (GRCm39) |
I587T |
possibly damaging |
Het |
Syt4 |
T |
A |
18: 31,573,255 (GRCm39) |
H420L |
probably damaging |
Het |
Tec |
T |
C |
5: 72,936,792 (GRCm39) |
K236E |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,545,676 (GRCm39) |
V32549A |
probably damaging |
Het |
Uqcc4 |
T |
C |
17: 25,403,846 (GRCm39) |
I62T |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,030,832 (GRCm39) |
H2299R |
possibly damaging |
Het |
Zfp729b |
A |
G |
13: 67,743,403 (GRCm39) |
V64A |
possibly damaging |
Het |
|
Other mutations in Chtf18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00973:Chtf18
|
APN |
17 |
25,941,090 (GRCm39) |
missense |
probably benign |
0.32 |
IGL02117:Chtf18
|
APN |
17 |
25,941,177 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL03034:Chtf18
|
APN |
17 |
25,946,320 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL03051:Chtf18
|
APN |
17 |
25,939,938 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03164:Chtf18
|
APN |
17 |
25,945,816 (GRCm39) |
missense |
probably benign |
0.24 |
R0046:Chtf18
|
UTSW |
17 |
25,942,434 (GRCm39) |
missense |
probably benign |
0.06 |
R0129:Chtf18
|
UTSW |
17 |
25,946,285 (GRCm39) |
nonsense |
probably null |
|
R1302:Chtf18
|
UTSW |
17 |
25,938,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R1487:Chtf18
|
UTSW |
17 |
25,939,583 (GRCm39) |
missense |
probably benign |
0.00 |
R1614:Chtf18
|
UTSW |
17 |
25,946,064 (GRCm39) |
missense |
probably benign |
0.00 |
R1820:Chtf18
|
UTSW |
17 |
25,944,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R4051:Chtf18
|
UTSW |
17 |
25,938,168 (GRCm39) |
missense |
probably damaging |
0.98 |
R4357:Chtf18
|
UTSW |
17 |
25,938,106 (GRCm39) |
missense |
probably benign |
0.09 |
R4529:Chtf18
|
UTSW |
17 |
25,939,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R4804:Chtf18
|
UTSW |
17 |
25,938,231 (GRCm39) |
missense |
probably benign |
|
R4975:Chtf18
|
UTSW |
17 |
25,943,540 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5154:Chtf18
|
UTSW |
17 |
25,942,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R6113:Chtf18
|
UTSW |
17 |
25,941,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R6118:Chtf18
|
UTSW |
17 |
25,938,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R6446:Chtf18
|
UTSW |
17 |
25,940,218 (GRCm39) |
missense |
probably benign |
0.01 |
R7057:Chtf18
|
UTSW |
17 |
25,940,100 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7095:Chtf18
|
UTSW |
17 |
25,941,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R7482:Chtf18
|
UTSW |
17 |
25,938,963 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7641:Chtf18
|
UTSW |
17 |
25,941,249 (GRCm39) |
splice site |
probably null |
|
R7729:Chtf18
|
UTSW |
17 |
25,942,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R7939:Chtf18
|
UTSW |
17 |
25,941,111 (GRCm39) |
missense |
probably damaging |
0.99 |
R8007:Chtf18
|
UTSW |
17 |
25,944,508 (GRCm39) |
missense |
probably damaging |
0.96 |
R8051:Chtf18
|
UTSW |
17 |
25,942,453 (GRCm39) |
missense |
probably benign |
0.05 |
R8296:Chtf18
|
UTSW |
17 |
25,941,165 (GRCm39) |
missense |
probably benign |
0.00 |
R8321:Chtf18
|
UTSW |
17 |
25,939,865 (GRCm39) |
missense |
probably benign |
0.32 |
R8433:Chtf18
|
UTSW |
17 |
25,945,918 (GRCm39) |
missense |
probably benign |
|
R9386:Chtf18
|
UTSW |
17 |
25,942,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTCAGTAGGAGAAAACCCTGTGC -3'
(R):5'- CCTCAGTGTTGCCGTCTGTGTTAAAAG -3'
Sequencing Primer
(F):5'- ACTTGATGCCAACCCTGATG -3'
(R):5'- TCAAGTGGCTGAAGCTATGG -3'
|
Posted On |
2014-01-05 |